| Disease ID | Source | Name | Description |
| 200150 | OMIM | Choreoacanthocytosis (CHAC) | An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. The disease is caused by variants affecting the gene represented in this entry. |